Saethre-Chotzen Syndrome - Signs and Symptoms

Signs and Symptoms

Individuals with SCS are all affected differently. Even within the same family, affected individuals have different features. The majority of individuals with SCS are moderately affected, with uneven facial features and a relatively flat face due to underdeveloped eye sockets, cheekbones, and lower jaw. In addition to the physical abnormalities, people with SCS also experience growth delays, which results in a relatively short stature. Although, most individuals with SCS are of normal intelligence, some individuals may have mild to moderate mental retardation (IQ from 50-70). More severe cases of SCS, with more serious facial deformities, occurs when multiple cranial sutures close prematurely.